OCTD
MCID: MSS002
MIFTS: 39

Mass Syndrome (OCTD)

Categories: Bone diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mass Syndrome

MalaCards integrated aliases for Mass Syndrome:

Name: Mass Syndrome 57 76 53 75 29 13 6 40
Overlap Connective Tissue Disease 57 53 75 73
Mass Phenotype 57 53 37 55
Octd 57 53 75
Overlap Connective Tissue Disease; Octd 57

Characteristics:

HPO:

32
mass syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 604308
MedGen 42 C1858556
KEGG 37 H00661
UMLS 73 C1858556

Summaries for Mass Syndrome

NIH Rare Diseases : 53 MASS phenotype is a familial connective tissue disorder similar to Marfan syndrome that affects different people in different ways. MASS is an acronym for features of the disorder that may be present:Mitral valve prolapse - a heart condition in which the two valve flaps of the mitral valve in the heart do not close smoothly or evenly, and bulge (prolapse) upward into the left atrium. Aortic root dilation - borderline, non-progressive enlargement of the section of the aorta where the aorta and heart meet. Unlike in Marfan syndrome, aortic complications such as dissection and aneurysm usually do not occur. However some authors believe there may be an increased risk for aortic complications. Skin striae (stretch marks) - skin may have stretch marks even without changes in weight. Skeletal features - possible features include curvature of the spine (scoliosis), chest wall deformities, and joint hypermobility. People with MASS phenotype also have nearsightedness (myopia), but they do not experience eye lens dislocation (ectopia lentis) as in Marfan syndrome. MASS phenotype has rarely been diagnosed in people with a mutation in the FBN1 gene (which usually causes Marfan syndrome), but in most cases the cause of MASS phenotype is not yet known. People diagnosed with MASS phenotype who do have a FBN1 mutation may later be diagnosed with Marfan syndrome as additional features develop, which would convey a high risk of aortic complications. It may be hard to distinguish MASS phenotype from early features of Marfan syndrome in young individuals. Management focuses on the specific symptoms and severity in each person. It is important to monitor signs and symptoms over time, such as having annual heart and eye exams. This is especially important for people under 20 years of age who potentially have Marfan syndrome, since additional features may develop with age.

MalaCards based summary : Mass Syndrome, also known as overlap connective tissue disease, is related to connective tissue disease and tic disorder. An important gene associated with Mass Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Signaling by Wnt and Wnt Signaling Pathway and Pluripotency. Affiliated tissues include skin, heart and eye, and related phenotypes are striae distensae and disproportionate tall stature

UniProtKB/Swiss-Prot : 75 Overlap connective tissue disease: Heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable.

Wikipedia : 76 MASS syndrome is a medical disorder of the connective tissue similar to Marfan syndrome. MASS stands... more...

Description from OMIM: 604308

Related Diseases for Mass Syndrome

Graphical network of the top 20 diseases related to Mass Syndrome:



Diseases related to Mass Syndrome

Symptoms & Phenotypes for Mass Syndrome

Clinical features from OMIM:

604308

Human phenotypes related to Mass Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 striae distensae 32 HP:0001065
2 disproportionate tall stature 32 HP:0001519
3 mitral valve prolapse 32 HP:0001634
4 abnormality of the sternum 32 HP:0000766
5 aortic aneurysm 32 HP:0004942

MGI Mouse Phenotypes related to Mass Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.26 FBN1 LEP LRP5 SOST
2 pigmentation MP:0001186 8.8 FBN1 LEP LRP5

Drugs & Therapeutics for Mass Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impact of Preterm Body Composition at Discharge on 2 Years Neurological Development (ASQ Evaluation) Unknown status NCT01450436
2 Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5 Completed NCT01199094

Search NIH Clinical Center for Mass Syndrome

Genetic Tests for Mass Syndrome

Genetic tests related to Mass Syndrome:

# Genetic test Affiliating Genes
1 Mass Syndrome 29 FBN1

Anatomical Context for Mass Syndrome

MalaCards organs/tissues related to Mass Syndrome:

41
Skin, Heart, Eye, Bone, Lung, Liver

Publications for Mass Syndrome

Articles related to Mass Syndrome:

# Title Authors Year
1
Anesthetic evaluation and perioperative management in a patient with new onset mediastinal mass syndrome presenting for emergency surgery. ( 22606395 )
2011
2
Mediastinal mass syndrome. ( 15829000 )
2005
3
AAEM case report 33: costoclavicular mass syndrome. American Association of Electrodiagnostic Medicine. ( 10086905 )
1999
4
New-onset headache in an adolescent with MASS syndrome. ( 10522336 )
1999
5
Response of rheumatoid arthritis to chemotherapy for Hodgkin's disease in a patient with IgA deficiency and overlap connective tissue disease. ( 3401058 )
1988
6
Iliac fossa mass syndrome in hemophilia. ( 5467217 )
1970

Variations for Mass Syndrome

ClinVar genetic disease variations for Mass Syndrome:

6 (show top 50) (show all 346)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.5134_5137dup (p.Asn1713Ilefs) duplication Pathogenic rs1131692049 GRCh38 Chromosome 15, 48463169: 48463172
2 FBN1 NM_000138.4(FBN1): c.5134_5137dup (p.Asn1713Ilefs) duplication Pathogenic rs1131692049 GRCh37 Chromosome 15, 48755366: 48755369
3 FBN1 NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746008 GRCh37 Chromosome 15, 48704816: 48704816
4 FBN1 NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746008 GRCh38 Chromosome 15, 48412619: 48412619
5 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh37 Chromosome 15, 48779352: 48779352
6 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh38 Chromosome 15, 48487155: 48487155
7 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
8 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh38 Chromosome 15, 48537629: 48537629
9 FBN1 NM_000138.4(FBN1): c.1746C> T (p.Cys582=) single nucleotide variant Benign/Likely benign rs112366266 GRCh37 Chromosome 15, 48800870: 48800870
10 FBN1 NM_000138.4(FBN1): c.1746C> T (p.Cys582=) single nucleotide variant Benign/Likely benign rs112366266 GRCh38 Chromosome 15, 48508673: 48508673
11 FBN1 NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112287730 GRCh37 Chromosome 15, 48782174: 48782174
12 FBN1 NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112287730 GRCh38 Chromosome 15, 48489977: 48489977
13 FBN1 NM_000138.4(FBN1): c.3675G> A (p.Pro1225=) single nucleotide variant Benign/Likely benign rs148147223 GRCh37 Chromosome 15, 48777608: 48777608
14 FBN1 NM_000138.4(FBN1): c.3675G> A (p.Pro1225=) single nucleotide variant Benign/Likely benign rs148147223 GRCh38 Chromosome 15, 48485411: 48485411
15 FBN1 NM_000138.4(FBN1): c.3965-8T> C single nucleotide variant Benign/Likely benign rs140637 GRCh37 Chromosome 15, 48766855: 48766855
16 FBN1 NM_000138.4(FBN1): c.3965-8T> C single nucleotide variant Benign/Likely benign rs140637 GRCh38 Chromosome 15, 48474658: 48474658
17 FBN1 NM_000138.4(FBN1): c.4441A> G (p.Ser1481Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61730054 GRCh37 Chromosome 15, 48762849: 48762849
18 FBN1 NM_000138.4(FBN1): c.4441A> G (p.Ser1481Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61730054 GRCh38 Chromosome 15, 48470652: 48470652
19 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic/Likely pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
20 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic/Likely pathogenic rs111401431 GRCh38 Chromosome 15, 48468097: 48468097
21 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
22 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh38 Chromosome 15, 48465820: 48465820
23 FBN1 NM_000138.4(FBN1): c.4905C> G (p.Thr1635=) single nucleotide variant Benign/Likely benign rs113115949 GRCh37 Chromosome 15, 48757802: 48757802
24 FBN1 NM_000138.4(FBN1): c.4905C> G (p.Thr1635=) single nucleotide variant Benign/Likely benign rs113115949 GRCh38 Chromosome 15, 48465605: 48465605
25 FBN1 NM_000138.4(FBN1): c.510C> T (p.Tyr170=) single nucleotide variant Conflicting interpretations of pathogenicity rs111671429 GRCh37 Chromosome 15, 48888508: 48888508
26 FBN1 NM_000138.4(FBN1): c.510C> T (p.Tyr170=) single nucleotide variant Conflicting interpretations of pathogenicity rs111671429 GRCh38 Chromosome 15, 48596311: 48596311
27 FBN1 NM_000138.4(FBN1): c.6594C> T (p.Pro2198=) single nucleotide variant Benign/Likely benign rs111844882 GRCh37 Chromosome 15, 48726813: 48726813
28 FBN1 NM_000138.4(FBN1): c.6594C> T (p.Pro2198=) single nucleotide variant Benign/Likely benign rs111844882 GRCh38 Chromosome 15, 48434616: 48434616
29 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
30 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193922228 GRCh38 Chromosome 15, 48430736: 48430736
31 FBN1 NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser) single nucleotide variant Benign/Likely benign rs363835 GRCh37 Chromosome 15, 48722907: 48722907
32 FBN1 NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser) single nucleotide variant Benign/Likely benign rs363835 GRCh38 Chromosome 15, 48430710: 48430710
33 FBN1 NM_000138.4(FBN1): c.8283A> T (p.Thr2761=) single nucleotide variant Benign/Likely benign rs146120912 GRCh37 Chromosome 15, 48703520: 48703520
34 FBN1 NM_000138.4(FBN1): c.8283A> T (p.Thr2761=) single nucleotide variant Benign/Likely benign rs146120912 GRCh38 Chromosome 15, 48411323: 48411323
35 FBN1 NM_000138.4(FBN1): c.8502T> C (p.Thr2834=) single nucleotide variant Benign/Likely benign rs363847 GRCh37 Chromosome 15, 48703301: 48703301
36 FBN1 NM_000138.4(FBN1): c.8502T> C (p.Thr2834=) single nucleotide variant Benign/Likely benign rs363847 GRCh38 Chromosome 15, 48411104: 48411104
37 FBN1 NM_000138.4(FBN1): c.986T> C (p.Ile329Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12324002 GRCh37 Chromosome 15, 48818329: 48818329
38 FBN1 NM_000138.4(FBN1): c.986T> C (p.Ile329Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12324002 GRCh38 Chromosome 15, 48526132: 48526132
39 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
40 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs397515757 GRCh38 Chromosome 15, 48515382: 48515382
41 FBN1 NM_000138.4(FBN1): c.156G> T (p.Ala52=) single nucleotide variant Benign rs25398 GRCh37 Chromosome 15, 48936811: 48936811
42 FBN1 NM_000138.4(FBN1): c.156G> T (p.Ala52=) single nucleotide variant Benign rs25398 GRCh38 Chromosome 15, 48644614: 48644614
43 FBN1 NM_000138.4(FBN1): c.1875T> C (p.Asn625=) single nucleotide variant Benign rs25458 GRCh37 Chromosome 15, 48797307: 48797307
44 FBN1 NM_000138.4(FBN1): c.1875T> C (p.Asn625=) single nucleotide variant Benign rs25458 GRCh38 Chromosome 15, 48505110: 48505110
45 FBN1 NM_000138.4(FBN1): c.2175T> C (p.Asn725=) single nucleotide variant Benign/Likely benign rs140606 GRCh37 Chromosome 15, 48789581: 48789581
46 FBN1 NM_000138.4(FBN1): c.2175T> C (p.Asn725=) single nucleotide variant Benign/Likely benign rs140606 GRCh38 Chromosome 15, 48497384: 48497384
47 FBN1 NM_000138.4(FBN1): c.2855-9C> T single nucleotide variant Benign/Likely benign rs140590 GRCh37 Chromosome 15, 48782284: 48782284
48 FBN1 NM_000138.4(FBN1): c.2855-9C> T single nucleotide variant Benign/Likely benign rs140590 GRCh38 Chromosome 15, 48490087: 48490087
49 FBN1 NM_000138.4(FBN1): c.2895G> A (p.Glu965=) single nucleotide variant Benign/Likely benign rs140591 GRCh37 Chromosome 15, 48782235: 48782235
50 FBN1 NM_000138.4(FBN1): c.2895G> A (p.Glu965=) single nucleotide variant Benign/Likely benign rs140591 GRCh38 Chromosome 15, 48490038: 48490038

Expression for Mass Syndrome

Search GEO for disease gene expression data for Mass Syndrome.

Pathways for Mass Syndrome

GO Terms for Mass Syndrome

Cellular components related to Mass Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 8.92 FBN1 LEP SOST WNT11

Biological processes related to Mass Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.61 LRP5 SOST WNT11
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.48 SOST WNT11
3 kidney development GO:0001822 9.46 FBN1 WNT11
4 canonical Wnt signaling pathway GO:0060070 9.4 LRP5 WNT11
5 cellular response to retinoic acid GO:0071300 9.37 LEP WNT11
6 regulation of blood pressure GO:0008217 9.32 LEP LRP5
7 response to nutrient levels GO:0031667 9.26 LEP WNT11
8 adipose tissue development GO:0060612 9.16 LEP LRP5
9 Wnt signaling pathway GO:0016055 9.13 LRP5 SOST WNT11
10 negative regulation of cartilage development GO:0061037 8.62 LEP WNT11

Molecular functions related to Mass Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 FBN1 LEP

Sources for Mass Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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